PKU x Phenylketonuria or PKU : Deficiency of the enzyme responsible for the breakdown of the amino acid phenylalanine. x Affects children. x Phenylalanine will accumulate in the x PKU is an autosomal recessive disorder. x PKU is tested for at birth (stab in the tested) x PKU can be controlled by a diet low in phenylalanine. Cystic Fibrosis x Cystic Fibrosis : Defective gene associated with a cell membrane component / water regulation. x The affected individual is unable to properly clear mucus which then accumulates and clogs several components of the Ventilatory (Respiratory) and Digestive System. x Cystic Fibrosis is an autosomal recessive disorder (Chromosome #7). x Cystic Fibrosis is fatal in about 50% of the cases by age 16. Some live to age 30+. x With modern treatments, the life expectancy is on the rise for this disease. Down Syndrome
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